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自身免疫性疾病的遗传学

Genetics of autoimmune diseases.

作者信息

Miller F W

机构信息

Molecular Immunology Laboratory, Food and Drug Administration, Bethesda, Md 20892, USA.

出版信息

Exp Clin Immunogenet. 1995;12(3):182-90. doi: 10.1159/000424870.

Abstract

Many lines of evidence suggest that autoimmune diseases are the result of chronic immune activation in genetically susceptible individuals following specific environmental exposures. Although the rarity and heterogeneity of autoimmune diseases and the lack of understanding of pathogenetic mechanisms have inhibited progress in the field, genes encoding histocompatibility molecules, immunoglobulins, complement components, peptide transporter proteins, T-cell receptors, sex hormones, cytokines, and metabolic enzymes important in drug and toxin elimination, have been identified as risk factors for one or more autoimmune diseases. Novel molecular genetic techniques and epidemiologic approaches that subset diseases by demographics, clinical manifestations, serology, and environmental exposures, should further elucidate the environmental and genetic risk factors for these increasingly recognized multifactorial disorders.

摘要

许多证据表明,自身免疫性疾病是遗传易感性个体在特定环境暴露后慢性免疫激活的结果。尽管自身免疫性疾病的罕见性和异质性以及对发病机制缺乏了解阻碍了该领域的进展,但编码组织相容性分子、免疫球蛋白、补体成分、肽转运蛋白、T细胞受体、性激素、细胞因子以及在药物和毒素清除中起重要作用的代谢酶的基因已被确定为一种或多种自身免疫性疾病的危险因素。通过人口统计学、临床表现、血清学和环境暴露对疾病进行分类的新型分子遗传学技术和流行病学方法,应能进一步阐明这些日益被认识到的多因素疾病的环境和遗传危险因素。

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